Canonical Allele Identifier: CA349626445
Community Standard Title: NM_001267550.2(TTN):c.46430-2A>G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178619889T>C , CM000664.2:g.178619889T>C GRCh38
NC_000002.11:g.179484616T>C , CM000664.1:g.179484616T>C GRCh37
NC_000002.10:g.179192861T>C NCBI36
NG_011618.3:g.215914A>G , LRG_391:g.215914A>G
NG_051363.1:g.102063T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46430-2A>G (TTN) MANE Select NP_001254479.2:n.46430-2A>G
ENST00000589042.5:c.46430-2A>G (TTN) MANE Select ENSP00000467141.1:n.46430-2A>G
NM_001256850.1:c.41507-2A>G (TTN) NP_001243779.1:n.41507-2A>G
NM_003319.4:c.19235-2A>G (TTN) NP_003310.4:n.19235-2A>G
NM_133378.4:c.38726-2A>G (TTN) NP_596869.4:n.38726-2A>G
NM_133432.3:c.19610-2A>G (TTN) NP_597676.3:n.19610-2A>G
NM_133437.4:c.19811-2A>G (TTN) NP_597681.4:n.19811-2A>G
NR_038271.1:n.1741T>C (TTN-AS1)
ENST00000342175.10:c.19811-2A>G (TTN) ENSP00000340554.6:n.19811-2A>G
ENST00000342175.11:c.19811-2A>G (TTN) ENSP00000340554.6:n.19811-2A>G
ENST00000342992.10:c.38726-2A>G (TTN) ENSP00000343764.6:n.38726-2A>G
ENST00000342992.11:c.38726-2A>G (TTN) ENSP00000343764.6:n.38726-2A>G
ENST00000359218.10:c.19610-2A>G (TTN) ENSP00000352154.5:n.19610-2A>G
ENST00000359218.9:c.19610-2A>G (TTN) ENSP00000352154.5:n.19610-2A>G
ENST00000460472.6:c.19235-2A>G (TTN) ENSP00000434586.1:n.19235-2A>G
ENST00000591111.5:c.41507-2A>G (TTN) ENSP00000465570.1:n.41507-2A>G
ENST00000615779.4:c.41507-2A>G (TTN) ENSP00000483597.1:n.41507-2A>G
XM_011511729.1:c.45527-2A>G (TTN) XP_011510031.1:n.45527-2A>G
XM_011511730.1:c.19421-2A>G (TTN) XP_011510032.1:n.19421-2A>G
XM_011511731.1:c.19280-2A>G (TTN) XP_011510033.1:n.19280-2A>G
XM_017004819.1:c.45323-2A>G (TTN) XP_016860308.1:n.45323-2A>G
XM_017004820.1:c.40721-2A>G (TTN) XP_016860309.1:n.40721-2A>G
XM_017004821.1:c.40718-2A>G (TTN) XP_016860310.1:n.40718-2A>G
XM_017004822.1:c.37760-2A>G (TTN) XP_016860311.1:n.37760-2A>G
XM_017004823.1:c.19376-2A>G (TTN) XP_016860312.1:n.19376-2A>G
XM_024453094.1:c.40871-2A>G (TTN) XP_024308862.1:n.40871-2A>G
XM_024453095.1:c.40868-2A>G (TTN) XP_024308863.1:n.40868-2A>G
XM_024453096.1:c.40301-2A>G (TTN) XP_024308864.1:n.40301-2A>G
XM_024453097.1:c.37643-2A>G (TTN) XP_024308865.1:n.37643-2A>G
XM_024453098.1:c.37562-2A>G (TTN) XP_024308866.1:n.37562-2A>G
XM_024453099.1:c.19325-2A>G (TTN) XP_024308867.1:n.19325-2A>G
XM_024453100.1:c.9179-2A>G (TTN) XP_024308868.1:n.9179-2A>G